Abstract
Development dysplasia of the hip (DDH) is a complex developmental disorder despite being a relatively common condition mainly caused by incompatibility of the femoral head and the abnormal joint socket. Development dysplasia of the hip describes a wide spectrum of disorders ranging from minor acetabular dysplasia to irreducible dislocation of the hip. Modern medicine still suffers from lack of information about screening and precise genetic examination. Genome wide linkage and association studies have brought significant progress to DDH diagnosis. Association studies managed to identify many candidate (susceptible) genes, such as PAPPA2, COL2A1, HOXD9, GDF-5, and TGFB1, which play a considerable role in the pathogenesis of DDH. Early detection of DDH has a big chance to help in preventing further disability and improve the psychological health and quality of life in those children. This emphasizes the importance to establish a universal screening program along with the genetic counseling.
Highlights
Developmental dysplasia of the hip (DDH) is a complex musculoskeletal disease, which represents a wide spectrum of pathology, ranging from an asymptomatic form, with only mild radiological deviations, to minor joint instability, acetabular dysplasia, subluxation and to irreducible hip dislocation [1,2]
We provide a better understanding of DDH and bridge the gap between genetic causes and molecular mechanisms
Focuses on the correlation between single nucleotide polymorphisms (SNPs) to determine if any of the observed variants are associated with a trait
Summary
Developmental dysplasia of the hip (DDH) is a complex musculoskeletal disease, which represents a wide spectrum of pathology, ranging from an asymptomatic form, with only mild radiological deviations, to minor joint instability, acetabular dysplasia, subluxation and to irreducible hip dislocation [1,2]. Untreated DDH can lead to secondary damage to femur, destruction of the joint cartilage and, later on, even to severe movement impairment at any age [3,4]. Conducted a prospective cohort study confirming that DDH is a major risk factor to develop severe. Similar situations occur in mild forms of DDH that can be missed in newborns, and without treatment, can lead to earlier senior OA, for which the end-stage treatment could be total hip replacement. Studies reported a 30-fold increase for DDH among siblings and children with a previous family history of DDH. This strong genetic basis has been confirmed in a. Sci. 2019, 7, 59 twin-concordance study with a higher incidence among monozygotic (41%) compared to dizygotic twins, and with 5% recurrence rate for the subsequently born children [8]
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